KRT9 Chromosome 17
Keratin 9
Upload your DNA to see your personal genotypes for variants in KRT9.
What This Gene Does
This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000171403
Associated Conditions (7)
Inborn genetic diseases
Palmoplantar keratoderma
epidermolytic
KRT9-related disorder
Epidermolytic palmoplantar keratoderma
1
Palmoplantar keratodermas
Key Variants
RS114453622
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114867228
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma
Health Risk
RS116216460
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, KRT9-related disorder
Health Risk
RS116616468
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, KRT9-related disorder
Health Risk
RS142413684
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143100726
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma
Health Risk
RS144301874
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma
Health Risk
RS145501803
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, KRT9-related disorder
Health Risk
RS145530082
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, Inborn genetic diseases
Health Risk
RS367998669
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372549420
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma
Health Risk
RS373193953
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114453622 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS114867228 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS116216460 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, KRT9-related disorder |
| RS116616468 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, KRT9-related disorder |
| RS142413684 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143100726 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS144301874 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS145501803 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, KRT9-related disorder |
| RS145530082 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Inborn genetic diseases |
| RS367998669 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372549420 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS373193953 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS537282263 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS542825558 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS563000405 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Inborn genetic diseases |
| RS59510579 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Epidermolytic palmoplantar keratoderma |
| RS749243428 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS753893753 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS77688767 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, epidermolytic, KRT9-related disorder |
| RS1597794572 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2144572252 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma |
| RS2144572293 | Health Risk | Likely pathogenic | — |
| RS57536312 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, epidermolytic, Epidermolytic palmoplantar keratoderma |
| RS1906910979 | Health Risk | Pathogenic | — |
| RS267607420 | Health Risk | Pathogenic | — |
| RS28940896 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS56707768 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS57019720 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS58597584 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS59296273 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS59878153 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS61157095 | Health Risk | Pathogenic | Epidermolytic palmoplantar keratoderma, 1, Epidermolytic palmoplantar keratoderma |
| RS57758262 | Health Risk | Pathogenic/Likely pathogenic | Palmoplantar keratoderma, epidermolytic, Inborn genetic diseases |
| RS59616921 | Health Risk | Pathogenic/Likely pathogenic | Palmoplantar keratoderma, epidermolytic, Epidermolytic palmoplantar keratoderma |